HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.020 Biomarker disease BEFREE Significantly, these peptides have been previously identified in amyloid deposits <i>in vivo</i>, supporting the idea that HtrA1 is a causative agent for TGFBIp-associated amyloidosis in corneal dystrophy. 31197037 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.020 GeneticVariation disease BEFREE The study reveals previously unknown differences between the protein composition of GCD1 and LCD1 aggregates, and confirms the presence of the HtrA1 protease in LCD1-amyloid aggregates. 26207300 2015